a group of inherited disorders that affect the peripheral nerves (those outside the brain and spine).
Symptoms usually begin between mid-childhood and early adulthood. They may include:
Foot deformity (very high arch to feet)
foot drop (inability to hold foot horizontal)
Loss of lower leg muscle, which leads to skinny calves
Numbness in the foot or leg
"Slapping"
gait (feet hit the floor hard when walking)
Weakness of the hips, legs, or feet
Later, similar symptoms may appear in the arms and hands, which may include a claw-like hand deformity.
Charcot-Marie-Tooth is one of the most common inherited nerve-related disorders. Defects in at least 14 genes cause different forms of this disease.
The disease involves damage to the covering (myelin sheath) around nerve fibers. In some, the d
isease causes destruction of the myelin sheath. In others, the central (axon) portion of the nerve cell wears away.
Nerves that stimulate movement (the motor nerves) are most severely affected. The nerves in the legs are affected first and most severely.
Signs and tests
A physic exam may show:
Difficulty lifting up the foot and making toe-out movements
Lack of stretch reflexes in the legs
Loss of muscle control and atrophy (shrinking of the muscles) in the foot or leg
Thickened nerve bundles under the skin of the legs
A muscle biopsy or nerve biopsy may confirm the diagnosis. Nerve conduction tests are often done to tell the difference between different forms of the disorder.
genetic testing is available for most forms of the disease.
There is no known cure. orthopedic surgery or equipment (such as braces or orthopedic shoes) may it easier to walk.
Physical and occupational therapy may help maintain muscle strength and improve independent functioning.
Questions
1. Can it be inherited?
2. Is it painful?
3 What causes this disease?
Dan Gee
CHARCOT-MARIE-TOOTH SYNDROME
a group of inherited disorders that affect the peripheral nerves (those outside the brain and spine).
Symptoms usually begin between mid-childhood and early adulthood. They may include:
Foot deformity (very high arch to feet)
foot drop (inability to hold foot horizontal)
Loss of lower leg muscle, which leads to skinny calves
Numbness in the foot or leg
"Slapping"
gait (feet hit the floor hard when walking)
Weakness of the hips, legs, or feet
Later, similar symptoms may appear in the arms and hands, which may include a claw-like hand deformity.
Charcot-Marie-Tooth is one of the most common inherited nerve-related disorders. Defects in at least 14 genes cause different forms of this disease.
The disease involves damage to the covering (myelin sheath) around nerve fibers. In some, the d
isease causes destruction of the myelin sheath. In others, the central (axon) portion of the nerve cell wears away.
Nerves that stimulate movement (the motor nerves) are most severely affected. The nerves in the legs are affected first and most severely.
Signs and tests
A physic exam may show:
Difficulty lifting up the foot and making toe-out movements
Lack of stretch reflexes in the legs
Loss of muscle control and atrophy (shrinking of the muscles) in the foot or leg
Thickened nerve bundles under the skin of the legs
A muscle biopsy or nerve biopsy may confirm the diagnosis. Nerve conduction tests are often done to tell the difference between different forms of the disorder.
genetic testing is available for most forms of the disease.
There is no known cure. orthopedic surgery or equipment (such as braces or orthopedic shoes) may it easier to walk.
Physical and occupational therapy may help maintain muscle strength and improve independent functioning.
Questions
1. Can it be inherited?
2. Is it painful?
3 What causes this disease?
Work cited http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm
http://www.mayoclinic.com/health/charcot-marie-tooth-disease/DS00557
http://ghr.nlm.nih.gov/condition=charcotmarietoothdisease